Variant report

Variant	rs4629607
Chromosome Location	chr5:44857467-44857468
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:44817948..44820754-chr5:44857369..44859717,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPS30-9	chr5:44857275-44857513	expReg_chr5_1704_+

Extended variants
information (count: 118 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10038562	0.84[EUR][1000 genomes]
rs10040082	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10040488	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10041518	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10045264	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10057521	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10059086	0.88[EUR][1000 genomes]
rs10060878	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10063172	0.85[EUR][1000 genomes]
rs10064437	0.82[EUR][1000 genomes]
rs10065638	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10069220	0.88[EUR][1000 genomes]
rs10070037	0.88[EUR][1000 genomes]
rs10072025	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10072259	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10462080	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10462081	0.84[EUR][1000 genomes]
rs10462083	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10473376	0.85[EUR][1000 genomes]
rs10473377	0.85[EUR][1000 genomes]
rs11741772	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11746506	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11750119	0.83[EUR][1000 genomes]
rs11948387	0.87[EUR][1000 genomes]
rs11948636	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11951760	0.88[EUR][1000 genomes]
rs11958451	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12109710	0.85[EUR][1000 genomes]
rs12188871	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12513749	0.84[EUR][1000 genomes]
rs12517690	0.85[EUR][1000 genomes]
rs12518851	0.84[EUR][1000 genomes]
rs12651949	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12652026	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12656984	0.83[EUR][1000 genomes]
rs13154781	0.83[EUR][1000 genomes]
rs13155698	0.84[EUR][1000 genomes]
rs13157608	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13168400	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13174122	0.84[EUR][1000 genomes]
rs13183209	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13185174	0.83[EUR][1000 genomes]
rs13187933	0.88[EUR][1000 genomes]
rs13189120	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1371024	0.81[EUR][1000 genomes]
rs1371025	0.84[EUR][1000 genomes]
rs1438819	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1438822	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16901963	0.84[EUR][1000 genomes]
rs16901964	0.83[EUR][1000 genomes]
rs16901965	0.83[EUR][1000 genomes]
rs16901989	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16901990	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1866406	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2083243	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2165008	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2330619	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2330620	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34501299	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3747479	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3761648	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3761649	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3761650	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4129642	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4395640	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4457088	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4457089	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4596389	0.84[EUR][1000 genomes]
rs4642377	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4866783	0.88[EUR][1000 genomes]
rs4866784	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4866920	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6451772	0.83[EUR][1000 genomes]
rs6451774	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6451775	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6451781	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67274820	0.84[EUR][1000 genomes]
rs6859157	0.84[EUR][1000 genomes]
rs6868232	0.84[EUR][1000 genomes]
rs6868779	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6870136	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6871820	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6872254	0.84[EUR][1000 genomes]
rs6875287	0.83[EUR][1000 genomes]
rs6875933	0.83[EUR][1000 genomes]
rs6881563	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6894324	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6896350	0.84[EUR][1000 genomes]
rs71610376	0.84[EUR][1000 genomes]
rs727304	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs727305	0.84[EUR][1000 genomes]
rs729599	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7703059	0.84[EUR][1000 genomes]
rs7703618	0.87[EUR][1000 genomes]
rs7708506	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7710952	0.84[EUR][1000 genomes]
rs7710978	0.84[EUR][1000 genomes]
rs7712949	0.83[EUR][1000 genomes]
rs7715731	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7717459	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7728431	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7736952	0.84[EUR][1000 genomes]
rs9292914	0.88[EUR][1000 genomes]
rs930394	0.84[EUR][1000 genomes]
rs9637783	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9637796	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9637797	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs969679	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9791056	0.88[EUR][1000 genomes]
rs9791059	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9791164	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs987394	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830279	chr5:44688175-44860815	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1027897	chr5:44695278-45061623	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv881564	chr5:44783255-44914579	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv881418	chr5:44800665-44869100	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv880397	chr5:44800665-44939293	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv880483	chr5:44827292-45038026	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4629607	LOC647121	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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